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Thesis

Identification of novel disease-causing genes in inherited retinal dystrophy

Abstract:

Over 270 genes underlying monogenic forms of inherited retinal dystrophies (IRDs) have been identified to date, enabling the development of new treatment regimens such as gene therapy. However, there are still IRD cases with underlying genetic causes yet to be identified, prompting the need for continued disease-gene identification studies. In this thesis, individuals from four families with dominant IRDs without a known genetic cause underwent whole-exome sequencing (WES). Rare pathogenic...

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Division:
MSD
Department:
Clinical Neurosciences
Role:
Author

Contributors

Institution:
University of Oxford
Division:
MSD
Department:
Clinical Neurosciences
Role:
Supervisor
ORCID:
0000-0003-2179-907X
Institution:
University of Oxford
Division:
MSD
Department:
Clinical Neurosciences
Role:
Supervisor
Role:
Supervisor
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Name:
Retina UK
Funder identifier:
http://dx.doi.org/10.13039/501100000310
Programme:
UKIRDC Study
More from this funder
Name:
Department for International Deverlopment, UK (DFID)
Programme:
Commonwealth Scholarships Commission
Type of award:
DPhil
Level of award:
Doctoral
Awarding institution:
University of Oxford

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